Varaico: Literature-Extracted Genetic Variants

Gene:RECQL4
Variant:p.K508M
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RECQL4

NM_004260.4:p.K508M

Associated Papers

DNA-PKcs-dependent phosphorylation of RECQL4 promotes NHEJ by stabilizing the NHEJ machinery at DNA double-strand breaks.

Lu H et al.

Nucleic Acids Research, 2022

RECQ DNA Helicases and Osteosarcoma.

Lu L et al.

Advances in Experimental Medicine and Biology, 2020

ATP-dependent helicase activity is dispensable for the physiological functions of Recql4.

Castillo-Tandazo W et al.

Plos Genetics, 2019

Chromosome alignment maintenance requires the MAP RECQL4, mutated in the Rothmund-Thomson syndrome.

Yokoyama H et al.

Life Science Alliance, 2019

RecQL4-Aurora B kinase axis is essential for cellular proliferation, cell cycle progression, and mitotic integrity.

Fang H et al.

Oncogenesis, 2018

Senescence induced by RECQL4 dysfunction contributes to Rothmund-Thomson syndrome features in mice.

Lu H et al.

Cell Death & Disease, 2014

The RECQL4 protein, deficient in Rothmund-Thomson syndrome is active on telomeric D-loops containing DNA metabolism blocking lesions.

Ferrarelli LK et al.

Dna Repair, 2013

RECQL4 in genomic instability and aging.

Croteau DL et al.

Trends in Genetics : Tig, 2012

RAPADILINO RECQL4 mutant protein lacks helicase and ATPase activity.

Croteau DL et al.

Biochimica Et Biophysica Acta, 2012

The human RecQ helicases BLM and RECQL4 cooperate to preserve genome stability.

Singh DK et al.

Nucleic Acids Research, 2012

Conserved helicase domain of human RecQ4 is required for strand annealing-independent DNA unwinding.

Rossi ML et al.

Dna Repair, 2010

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